Liquid Biopsy in 2017: Circulating Tumor Cells and Circulating Tumor DNA in Precision Medicine

doi:10.11910/2227-6394.2017.05.01.01

Abstract
Figure/Table
References (53)
Related Citation (15)

Download: PDF (252 KB) RICH HTML
Export: BibTeX | EndNote (RIS)

Abstract

With the popularization of molecular targeted drugs, precision medicine is gradually applied in cancer field. It makes cancer diagnosis and treatment more specific and targeted by combining genetic information, diagnosis and treatment of individual disease together. Therefore, to seek markers that can real-timely monitor cancer status is very important. As a key pathway of precision treatment, liquid biopsy is usually defined as the simple tests quickly done in blood samples or other body fluids. In cancer patients, the objective of those tests is to detect samples obtained from the tumors. As a non-invasive diagnostic technique, liquid biopsy takes circulating tumor cells (CTCs), circulating tumor DNA (ctDNA) and exosomes as the biomarkers of cancer diagnosis, which not only avoids surgical biopsy and aspiration biopsy, but also extracts the tumor samples repeatedly, consequently convenient for doctors to establish gene expression profiles. This article mainly reviewed CTCs and ctDNA monitoring technologies as well as their application in precision medicine.

Key words： Lipid biopsy Circulating tumor cells Circulating tumor DNA Precision medicine

Corresponding Authors: PAN Ming-xin, E-mail: pmxwxy@sohu.com

	Service

	E-mail this article
	Add to my bookshelf
	Add to citation manager
	E-mail Alert
	RSS
	Articles by authors
	CAI Lei
	PAN Ming-xin

Cite this article:

CAI Lei,PAN Ming-xin. Liquid Biopsy in 2017: Circulating Tumor Cells and Circulating Tumor DNA in Precision Medicine[J]. Journal of International Translational Medicine, 2017, 5(1): 1-7.

URL:

http://www.jitm.hk/EN/10.11910/2227-6394.2017.05.01.01 OR http://www.jitm.hk/EN/Y2017/V5/I1/1

1 Gold B, Cankovic M, Furtado LV, et al. Do circulating tumor cells, exosomes, and circulating tumor nucleic acids have clinical utility? A report of the association for molecular pathology. J Mol Diagn, 2015, 17(3): 209-224. doi: 10.1016/j.jmoldx.2015.02.001.
2 Ming Y, Li Y, Xing H, et al. Circulating tumor cells: From theory to nanotechnology-based detection. Front Pharmacol, 2017, 8: 35. doi: 10.3389/fphar.2017.00035.
3 Chen C, Wei Y, Hummel M, et al. Evidence for epithelialmesenchymal transition in cancer stem cells of head and neck squamous cell carcinoma. PLoS One, 2011, 6(1): e16466. doi: 10.1371/journal.pone.0016466.
4 Gröger CJ, Grubinger M, Waldhör T, et al. Meta-analysis of gene expression signatures defining the epithelial to mesenchymal transition during cancer progression. PLoS One, 2012, 7(12): e51136. doi: 10.1371/journal.pone.0051136.
5 Lorger M, Felding-Habermann B. Capturing changes in the brain microenvironment during initial steps of breast cancer brainmetastasis. Am J Pathol, 2010, 176(6): 2958-2971. doi: 10.2353/ajpath.2010.090838.
6 Pavese JM Farmer RL, Bergan RC. Inhibition of cancer cell invasion and metastasis by genistein. Cancer Metastasis Rev, 2010, 29(3): 465-482. doi: 10.1007/s10555-010-9238-z.
7 Paterlini-Brechot P, Benali NL. Circulating tumor cells (CTC) detection: clinical impact and future directions. Cancer Lett, 2007, 253(2): 180-204. doi: 10.1016/j.canlet.2006.12.014.
8 Hou Y, Song L, Zhu P, et al. Single-cell exome sequencing and monoclonal evolution of a JAK2-negative myeloproliferative neoplasm. Cell, 2012, 148(5): 873-885. doi: 10.1016/j.cell.2012.02.028.
9 Heitzer E, Auer M, Gasch C, et al. Complex tumor genomes inferred from single circulating tumor cells by array-CGH and next-generation sequencing. Cancer Res, 2013, 73(10): 2965-2975. doi: 10.1158/0008-5472.CAN-12-4140.
10 Sheng Y, Wang T, Li H, et al. Comparison of analytic performances of Cellsearch and iFISH approach in detecting circulating tumor cells. Oncotarget, 2017, 8(5): 8801-8806. doi: 10.18632/oncotarget.6688.
11 Gorges TM, Penkalla N, Schalk T, et al. Enumeration and molecular characterization of tumor cells in lung cancer patients using a novel in vivo device for capturing circulating tumor cells. Clin Cancer Res, 2016, 22(9): 2197-2206. doi: 10.1158/1078-0432.CCR-15-1416.
12 Theil G, Fischer K, Weber E, et al. The use of a new CellCollector to isolate circulating tumor cells from the blood of patients with different stages of prostate cancer and clinical outcomes-a proof-of-concept study. PLoS One, 2016, 11(8): e0158354. doi: 10.1371/journal.pone.0158354.
13 Alix-Panabières C. EPISPOT assay: detection of viable DTCs/CTCs in solid tumor patients. Recent Results Cancer Res, 2012, 195: 69-76. doi: 10.1007/978-3-642-28160-0_6.
14 Miyamoto DT, Lee RJ, Stott SL, et al. Androgen receptor signaling in circulating tumor cells as a marker of hormonally responsive prostate cancer. Cancer Discov,2012, 2(11): 995-1003. doi: 10.1158/2159-8290.CD-12-0222.
15 Kuske A, Gorges TM, Tennstedt P, et al. Improved detection of circulating tumor cells in non-metastatic high-risk prostate cancer patients. Sci Rep, 2016, 6: 39736. doi: 10.1038/srep39736.
16 Bevilacqua S, Gallo M, Franco R, et al. A “live” biopsy in a small-cell lung cancer patient by detection of circulating tumor cells. Lung Cancer, 2009, 65(1): 123-125. doi: 10.1016/j.lungcan.2009.01.019.
17 Zhang Z, Yuan Y. Circulating DNA, telomerase of circulating tumor cells and early diagnosis of tumors. Cancer, 2004, 23(2): 227-229.
18 Xu W, Cao L, Chen L, et al. Isolation of circulating tumor cells in patients with hepatocellular carcinoma using a novel cell separation strategy. Clin Cancer Res, 2011, 17(11): 3783-3793. doi: 10.1158/1078-0432.CCR-10-0498.
19 Sastre J, Maestro ML, Puente J, et al. Circulating tumor cells in colorectal cancer: correlation with clinical and pathological variables. Ann Oncol, 2008, 19(5): 935-938. doi: 10.1093/annonc/mdm583.
20 Pachmann K, Camara O, Kohlhase A, et al. Assessing the effcacy of targeted therapy using circulating epithelial tumor cells (CETC): the example of SERM therapy monitoring as a unique tool to individualize therapy. J Cancer Res Clin Oncol, 2011, 137(5): 821-828. doi: 10.1007/s00432-010-0942-4.
21 Yu M, Bardia A, Wittner BS, et al. Circulating breast tumor cells exhibit dynamic changes in epithelial and mesenchymal composition. Science, 2013, 339(6119): 580-584. doi: 10.1126/science.1228522.
22 Budd GT, Cristofanilli M, Ellis MJ, et al. Circulating tumor cells versus imaging--predicting overall survival in metastatic breast cancer. Clin Cancer Res, 2006, 12(21): 6403-6409. doi: 10.1158/1078-0432.CCR-05-1769.
23 Iwata H, Masuda N, Yamamoto D, et al. Circulating tumor cells as a prognostic marker for effcacy in the randomized phase III JO21095 trial in Japanese patients with HER2- negative metastatic breast cancer. Breast Cancer Res Treat, 2017, 162(3): 501-510. doi: 10.1007/s10549-017-4138-3.
24 Tsai WS, Chen JS, Shao HJ, et al. Circulating tumor cell count correlates with colorectal neoplasm progression and is a prognostic marker for distant metastasis in non-metastatic patients. Sci Rep, 2016, 6: 24517. doi: 10.1038/srep24517.
25 Tseng JY, Yang CY, Liang SC, et al. Dynamic changes in numbers and properties of circulating tumor cells and their potential applications. Cancers (Basel), 2014, 6(4): 2369- 2386. doi: 10.3390/cancers6042369.
26 Čapoun O, Mikulová V, Jančíková M, et al. Prognosis of castration-resistant prostate cancer patients - use of the AdnaTest® System for detection of circulating tumor cells. Anticancer Res, 2016, 36(4): 2019-2026.
27 Pachmann K, Camara O, Kavallaris A, et al. Monitoring the response of circulating epithelial tumor cells to adjuvant chemotherapy in breast cancer allows detection of patients at risk of early relapse. J Clin Oncol, 2008, 26(8): 1208-1215. doi: 10.1200/JCO.2007.13.6523.
28 Punnoose EA, Atwal S, Liu W, et al. Evaluation of circulating tumor cells and circulating tumor DNA in nonsmall cell lung cancer: association with clinical endpoints in a phase II clinical trial of pertuzumab and erlotinib. Clin Cancer Res, 2012, 18(8): 2391-2401. doi: 10.1158/1078-0432.CCR-11-3148.
29 Sakaizawa K, Goto Y, Kiniwa Y, et al. Mutation analysis of BRAF and KIT in circulating melanoma cells at the single cell level. Br J Cancer, 2012, 106(5): 939-946. doi: 10.1038/bjc.2012.12.
30 Jahr S, Hentze H, Englisch S, et al. DNA fragments in the blood plasma of cancer patients: quantitations and evidence for their origin from apoptotic and necrotic cells. Cancer Res, 2001, 61(4): 1659-1665.
31 Kidess E, Jeffrey SS. Circulating tumor cells versus tumorderived cell-free DNA: rivals or partners in cancer care in the era of single-cell analysis? Genome Med, 2013, 5(8): 70. doi: 10.1186/gm474.
32 Diehl F, Schmidt K, Choti MA, et al. Circulating mutant DNA to assess tumor dynamics. Nat Med, 2008, 14(9): 985-990. doi: 10.1038/nm.1789.
33 Diehl F, Li M, Dressman D, et al. Detection and quantification of mutations in the plasma of patients with colorectal tumors. Proc Natl Acad Sci U S A, 2005, 102(45):16368-16373. doi: 10.1073/pnas.0507904102.
34 Sirera R, Bremnes RM, Cabrera A, et al. Circulating DNA is a useful prognostic factor in patients with advanced nonsmall cell lungcancer. J Thorac Oncol, 2011, 6(2): 286-290. doi:10.1097/JTO.0b013e31820189a5.
35 Crowley E, Di Nicolantonio F, Loupakis F, et al. Liquid biopsy: monitoring cancer-genetics in the blood. Nat Rev Clin Oncol, 2013, 10(8): 472-484. doi: 10.1038/nrclinonc.2013.110.
36 Diehl F, Schmidt K, Choti MA, et al. Circulating mutant DNA to assess tumor dynamics. Nat Med, 2008, 14(9): 985-990. doi: 10.1038/nm.1789.
37 Diaz LA Jr, Bardelli A. Liquid biopsies: genotyping circulating tumor DNA. J Clin Oncol, 2014, 32(6): 579-586. doi: 10.1200/JCO.2012.45.2011.
38 Newman AM, Bratman SV, To J, et al. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. Nat Med, 2014, 20(5): 548-554. doi: 10.1038/nm.3519.
39 Jahr S, Hentze H, Englisch S, et al. DNA fragments in the blood plasma of cancer patients: quantitations and evidence for their origin from apoptotic and necrotic cells. Cancer Res, 2001, 61(4): 1659-1665.
40 Tóth K, Galamb O, Spisák S, et al. Free circulating DNA based colorectal cancer screening from peripheral blood: the possibility of the methylated septin 9 gene marker. Orv Hetil, 2009, 150(21): 969-677. doi: 10.1556/OH.2009.28625.
41 Chan KC, Jiang P, Zheng YW, et al. Cancer genome scanning in plasma: detection of tumor-associated copy number aberrations, single-nucleotide variants, and tumoral heterogeneity by massively parallel sequencing. Clin Chem, 2013, 59(1): 211-224. doi: 10.1373/clinchem.2012.196014.
42 Keedy VL, Temin S, Somerfield MR, et al. American Society of Clinical Oncology provisional clinical opinion: epidermal growth factor receptor (EGFR) Mutation testing for patients with advanced non-small-cell lung cancer considering first-line EGFR tyrosine kinase inhibitor therapy. J Clin Oncol, 2011, 29(15): 2121-2127. doi:10.1200/JCO.2010.31.8923.
43 Thierry AR, Mouliere F, El Messaoudi S, et al. Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA. Nat Med, 2014, 20(4): 430-435. doi: 10.1038/nm.3511.
44 Ettinger DS, Wood DE, Akerley W, et al. NCCN guidelines insights: non-small cell lung cancer, Version 4.2016. J Natl Compr Canc Netw, 2016, 14(3): 255-264.
45 Shaw AT, Engelman JA. ALK in lung cancer: past, present, and future. J Clin Oncol, 2013, 31(8): 1105-1111. doi: 10.1200/JCO.2012.44.5353.
46 Gonzalez D, Fearfield L, Nathan P, et al. BRAF mutation testing algorithm for vemurafenib treatment in melanoma: recommendations from an expert panel. Br J Dermatol, 2013, 168(4): 700-707. doi: 10.1111/bjd.12248.
47 Garcia-Murillas I, Schiavon G, Weigelt B, et al. Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer. Sci Transl Med, 2015, 7(302): 302ra133. doi: 10.1126/scitranslmed.aab0021.
48 Spindler KL, Pallisgaard N, Andersen RF, et al. Circulating free DNA as biomarker and source for mutation detection in metastatic colorectal cancer. PLoS One, 2015, 10(4): e0108247.doi: 10.1371/journal.pone.0108247.
49 Martignetti JA, Camacho-Vanegas O, Priedigkeit N, et al. Personalized ovarian cancer disease surveillance and detection of candidate therapeutic drug target in circulating tumor DNA. Neoplasia, 2014, 16(1): 97-103.
50 de Cuba EM, Snaebjornsson P, Heideman DA, et al. Prognostic value of BRAF and KRAS mutation status in stage II and III microsatellite instable colon cancers. Int J Cancer, 2016, 138(5): 1139-1145. doi: 10.1002/ijc.29855.
51 Russo M, Siravegna G, Blaszkowsky LS, et al. Tumor heterogeneity and lesion-specific response to targeted therapy in colorectal cancer. Cancer Discov, 2016, 6(2): 147-153. doi: 10.1158/2159-8290.CD-15-1283.
52 Esposito A, Criscitiello C, Locatelli M, et al. Liquid biopsies for solid tumors: Understanding tumor heterogeneity and real time monitoring of early resistance to targeted therapies. Pharmacol Ther, 2016, 157: 120-124. doi: 10.1016/j.pharmthera.2015.11.007.
53 Newman AM, Bratman SV, To J, et al. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. Nat Med, 2014, 20(5): 548-554. doi: 10.1038/nm.3519.